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Hunt for heart valve genes launches in 700 volunteers

NCT ID NCT04514445

Knowledge-focused Sponsor: University Hospitals, Leicester Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find the genetic causes of bicuspid aortic valve (BAV), a common heart defect where the valve has two flaps instead of three. Researchers will collect blood samples from 700 people with BAV and their family members to compare DNA. The goal is to identify gene changes linked to the condition, which could lead to better understanding and future treatments.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 700 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2015

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Suitable patients with the condition (index patients) will be identified and invited to take part in the study by their healthcare teams. Relatives will be identified during the interview with the index patient and invited to take part in the study by the index patients. Subjects below the age of 18 will be provided with age specific documents (information leaflets, invitation letters and consent forms). Informed consent will be sought from such participants as well as parent or legal guardian of such participants.

Ages

10 to 99 years

Sex

Anyone

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: \- 1. All outpatients and inpatients with diagnosed BAV, of either gender, aged 10 and above. 2\. Affected and unaffected first degree relatives meeting the age criteria. Exclusion Criteria: * 1\) Patients unable to give informed consent. 2\) Patients known to be infected with HIV, Hepatitis B, Hepatitis C or any other agent posing an infection risk from unfixed material. 3\) Patient with known cytogenetic disorders e.g. aneuploidia, chromosomal abnormalities and known karyotype abnormalities. 4\) Patients with diagnosed or suspected Mendelian syndromes (e.g. Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome).

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Conditions

The condition(s) this trial relates to.

aortic valve disease 1 cardiovascular disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Cardiovascular diseases

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    4 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Imperial College Healthcare NHS Trust

    RECRUITING

    London, United Kingdom

  • Kettering General Hospital

    RECRUITING

    Kettering, United Kingdom

  • Sheffield Teaching Hospital NHS Foundation Trust

    RECRUITING

    Sheffield, United Kingdom

  • University Hospitals of Leicester

    RECRUITING

    Leicester, United Kingdom

More trials for these conditions

Other studies related to the condition(s) this trial covers.